A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982980



Internal ID12627954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161493708..161669769hg38UCSC Ensembl
Innerchr1:161463498..161639559hg19UCSC Ensembl
Innerchr1:159730122..159906183hg18UCSC Ensembl
Innerchr1:158276553..158371226hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38176062
hg19176062
hg18176062
hg1794674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750814
Supporting Variants
SamplesBEC_531
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982980
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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